Molecular Genetics of Hemoglobinopathies

Question 1

Fetal hemoglobin is _____, while adult hemoglobin is _____.

Answer 1

alpha2 gamma2; alpha2 beta 2

Question 2

There are three kinds of hemoglobinopathies:

Answer 2

structural (like sickle-cell); quantitative (all kinds of thalassemias); and defects in switching (persistence of fetal hemoglobin)

Question 3

Sickle-cell is caused by a missense mutation in the ___ chain.

Answer 3

beta hemoglobin

Question 4

Hemoglobin C (HbC) is another kind of _____ hemoglobinopathy.

Answer 4

structural (qualitative)

Question 5

The ____ state of hemoglobin is the higher-affinity state.

Answer 5

relaxed/Kempsey

Question 6

The ______ state of hemoglobin is the lower-affinity state.

Answer 6

tense/Kansas

Question 7

Binding oxygen triggers a _______ transition in hemoglobin.

Answer 7

tense to relaxed